Dhcr24 (GeneID: 74754) | Mus musculus
Description: 24-dehydrocholesterol reductase [Source:MGI Symbol;Acc:MGI:1922004]
Synonyms: 2310076D10Rik, mKIAA0018, 5830417J06Rik
Other ID(s): ENSMUSG00000034926, MGI:1922004
Protein Accession Numbers: NP_444502
Statistics: ClinVar(52) gnomAD(405) COSMIC(179) PTM(27)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000371269 You are here now! ENST00000436604 ENST00000535035 ENST00000537443 NP_055577 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF01565 FAD_binding_4 FAD binding domain 71-203 CL0077 FAD_PCMH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Hydrocephalus Nervous System Diseases ; 0.572 0.655
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.572 0.655
Q Fever Bacterial Infections and Mycoses ; 0.572 0.655
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Acute Q fever Bacterial Infections and Mycoses ; 0.572 0.655
Epileptic encephalopathy N/A 0.572 0.655
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.572 0.655
Chronic Q Fever Bacterial Infections and Mycoses ; 0.572 0.655
Autism Spectrum Disorders Mental Disorders ; 0.572 0.655
Desmosterolosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.572 0.655
Coxiella burnetii Infection Bacterial Infections and Mycoses ; 0.572 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.572 0.655
NO RESULT FOUND
feedback